Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics: a report on five patients
儿童肌联蛋白病中的双等位基因截断变异代表了一种具有独特肌肉和心脏特征的可识别疾病:五例患者的报告
期刊:Frontiers in Cardiovascular Medicine
影响因子:2.9
doi:10.3389/fcvm.2023.1210378
Baban, Anwar; Cicenia, Marianna; Magliozzi, Monia; Parlapiano, Giovanni; Cirillo, Marco; Pascolini, Giulia; Fattori, Fabiana; Gnazzo, Maria; Bruno, Pasqualina; De Luca, Lorenzo; Di Chiara, Luca; Francalanci, Paola; Udd, Bjarne; Secinaro, Aurelio; Amodeo, Antonio; Bertini, Enrico Silvio; Savarese, Marco; Drago, Fabrizio; Novelli, Antonio